(Q43242950)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911250%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

The first Italian family with tibial muscular dystrophy caused by a novel titin mutation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911250%20AND%20SRC:MED&resulttype=core&format=json

tibial muscular dystrophy

12 February 2020

main subject

Italy

0 references

1 reference

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911250%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Alessandra Renieri

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911250%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

author name string

Marzia Pollazzon

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911250%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Tiina Suominen

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911250%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Sini Penttilä

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911250%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Alessandro Malandrini

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911250%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Maria Alessandra Carluccio

5

1 reference

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12 February 2020

Mauro Mondelli

6

1 reference

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12 February 2020

Annabella Marozza

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911250%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Peter Hackman

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911250%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Maria Teresa Dotti

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911250%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

Bjarne Udd

12

1 reference

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12 February 2020

publication date

13 November 2009

1 reference

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12 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911250%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

volume

257

1 reference

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12 February 2020

issue

4

1 reference

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12 February 2020

page(s)

575-579

1 reference

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Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

12 February 2020

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00415-009-5372-3

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin

21 January 2018

1 reference

12 December 2020

Muscular dystrophy with separate clinical phenotypes in a large family

1 reference

12 December 2020

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

1 reference

12 December 2020

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene

1 reference

12 December 2020

Mutations of TTN, encoding the giant muscle filament titin, cause familial dilated cardiomyopathy

1 reference

12 December 2020

The first European family with tibial muscular dystrophy outside the Finnish population

1 reference

12 December 2020

Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients

1 reference

12 December 2020

Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD).

1 reference

12 December 2020

Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene

1 reference

12 December 2020

The kinase domain of titin controls muscle gene expression and protein turnover

1 reference

12 December 2020

Tibial muscular dystrophy in a Belgian family

1 reference

12 December 2020

10.1007/S00415-009-5372-3

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19911250%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference